"PreventionGenetics, part of Exact Sciences"[submitter] AND "SH3BP2"[g - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058905	NM_001122681.2(SH3BP2):c.-4-8148C>T	LOC106804089, SH3BP2	Single nucleotide variant (synonymous variant +1 more)	SH3BP2-related condition	GLikely benign
Select item 3044612	NM_001122681.2(SH3BP2):c.-4-2344C>T	SH3BP2 (A16V)	Single nucleotide variant (missense variant +1 more)	SH3BP2-related condition	GUncertain significance
Select item 2632392	NM_001122681.2(SH3BP2):c.49G>A (p.Ala17Thr)	SH3BP2 (A17T +2 more)	Single nucleotide variant (missense variant)	SH3BP2-related condition	GUncertain significance
Select item 2632689	NM_001122681.2(SH3BP2):c.59T>A (p.Leu20Gln)	SH3BP2 (L20Q +2 more)	Single nucleotide variant (missense variant)	SH3BP2-related condition	GUncertain significance
Select item 258893	NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=)	SH3BP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 348566	NM_001122681.2(SH3BP2):c.171C>T (p.Cys57=)	SH3BP2	Single nucleotide variant (synonymous variant)	SH3BP2-related condition +1 more	GBenign
Select item 3034417	NM_001122681.2(SH3BP2):c.240-7C>G	SH3BP2	Single nucleotide variant (intron variant)	SH3BP2-related condition	GLikely benign
Select item 348570	NM_001122681.2(SH3BP2):c.299A>G (p.His100Arg)	SH3BP2 (H100R +2 more)	Single nucleotide variant (missense variant)	SH3BP2-related condition +2 more	GBenign/Likely benign
Select item 258894	NM_001122681.2(SH3BP2):c.300T>C (p.His100=)	SH3BP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 258895	NM_001122681.2(SH3BP2):c.357+15G>T	SH3BP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1491643	NM_001122681.2(SH3BP2):c.376C>T (p.Arg126Cys)	SH3BP2 (R126C +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +2 more	GUncertain significance
Select item 258896	NM_001122681.2(SH3BP2):c.417C>G (p.Pro139=)	SH3BP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 733115	NM_001122681.2(SH3BP2):c.491T>G (p.Leu164Arg)	SH3BP2 (L164R +2 more)	Single nucleotide variant (missense variant)	SH3BP2-related condition +1 more	GLikely benign
Select item 1018085	NM_001122681.2(SH3BP2):c.506C>T (p.Thr169Met)	SH3BP2 (T169M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 348577	NM_001122681.2(SH3BP2):c.517+5G>A	SH3BP2	Single nucleotide variant (intron variant)	SH3BP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 348579	NM_001122681.2(SH3BP2):c.528C>T (p.His176=)	SH3BP2	Single nucleotide variant (synonymous variant)	SH3BP2-related condition +1 more	GBenign/Likely benign
Select item 258897	NM_001122681.2(SH3BP2):c.586+8G>A	SH3BP2	Single nucleotide variant (intron variant)	Fibrous dysplasia of jaw +2 more	GBenign
Select item 348581	NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val)	SH3BP2 (D219V +2 more)	Single nucleotide variant (missense variant)	SH3BP2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 258898	NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=)	SH3BP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2996367	NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter)	SH3BP2 (R370* +2 more)	Single nucleotide variant (nonsense)	Fibrous dysplasia of jaw +1 more	GUncertain significance
Select item 348586	NM_001122681.2(SH3BP2):c.1151G>A (p.Arg384Gln)	SH3BP2 (R384Q +2 more)	Single nucleotide variant (missense variant)	SH3BP2-related condition +1 more	GBenign/Likely benign
Select item 739890	NM_001122681.2(SH3BP2):c.1395C>T (p.Cys465=)	SH3BP2	Single nucleotide variant (synonymous variant)	SH3BP2-related condition +1 more	GLikely benign
Select item 1600689	NM_001122681.2(SH3BP2):c.1549-7C>T	SH3BP2	Single nucleotide variant (intron variant)	SH3BP2-related condition +1 more	GBenign/Likely benign
Select item 662664	NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln)	SH3BP2 (R552Q +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw +2 more	GConflicting classifications of pathogenicity
Select item 740775	NM_001122681.2(SH3BP2):c.1665C>T (p.Tyr555=)	SH3BP2	Single nucleotide variant (synonymous variant)	SH3BP2-related condition +1 more	GLikely benign

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Items: 25